Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed
at the bottom of the page. Diagnosis and management information can be found in the Down Syndrome module, which is written for primary care clinicians but also may be of help to parents and family members.

What is Down syndrome and what causes it?

Down syndrome is the most common chromosomal disorder. One in every 691 babies in the United States is born with Down syndrome.
Down syndrome occurs when some or all of a person’s cells have an extra full or partial copy of chromosome 21. This additional
genetic material alters the course of development and causes the characteristics associated with Down syndrome. The most common
form of Down syndrome is called Trisomy 21, because it involves an extra copy of the 21st chromosome.

What are the symptoms of Down syndrome?

Routine prenatal screening tests may identify Down syndrome during gestation. If new screening guidelines are effectively
implemented, 90% of cases will be identified during pregnancy. Currently 50% of infants with Down syndrome are identified
during gestation and the vast majority of the rest are identified in the newborn period based upon the presence of minor physical
features, major malformations (e.g., a heart defect), low muscle tone, and/or slow growth.

How is it diagnosed?

Down syndrome is diagnosed by chromosome analysis. Chromosome analysis may be done on cells from amniocentesis or chorionic
villus sampling during gestation. For those children not diagnosed prenatally, a sample of the infant/child's blood can be
sent for chromosome analysis to confirm the diagnosis.

What is the prognosis?

Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 60 today.

What is the risk for other family members or future babies?

Down syndrome can occur in people of all races and economic levels. Older women have an increased chance of having a child
with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance
increases gradually to one in 100 by age 40. At age 45 the incidence becomes approximately one in 30. [What is Down Syndrome (NDSS)] However, because young women are having more babies than older women, even though the risk is higher for an older woman
to have a baby with Down syndrome, the majority of children with Down syndrome are born to women under the age of 35.

What treatments/therapies/medications are recommended or available?

People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory
and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable,
so most people with Down syndrome lead healthy lives.

In addition to good health care, quality educational programs, a stimulating home environment and positive support from family,
friends and the community are critical to optimizing health and functional outcomes.

How will my child and our family be impacted?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as school,
health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees
of intellectual disabilities, from very mild to severe. Most people with Down syndrome have IQs in the mild to moderate range
of intellectual disability

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

National Down Syndrome CongressThe NDSC, a membership organization, offers parent resources, including a "new parent package" of information, as well as
news and events, government activities, and information on self-advocacy.

General

Down Syndrome (MedlinePlus)From the National Library of Medicine and National Institutes of Health, offers many links to high-quality sources of information
for patients and their families.

Down Syndrome - Health IssuesSite developed and edited/authored by a pediatrician, Len Leshin, MD, who has a son with Down syndrome. Includes a number
of essays by experts about specific health topics and provides other useful links.

Living with Down Syndrome ( 951 KB)This 34-page document provides information about Down syndrome; family and school issues; People First and cultural issues;
and more from The Down Syndrome Educational Trust.

Sexuality and People with Disabilities ( 257 KB)This Medical Home newsletter provides information for primary care providers and families including Sexuality and People with
Disabilities; American Academy of Pediatrics recommendations for education about sexuality; tips for parents; and resources,
books, and websites for parents and providers.

Studies

DS-Connect: The Down Syndrome Registry (NIH)Developed by the Down Syndrome Consortium, led by the National Institutes of Health and involving several Down syndrome advocacy
and professional organizations, to offer opportunities for patients/families and researchers to connect and to allow access
to research data by families.